应用QF-PCR技术对3075例常见染色体非整倍体快速产前诊断结果分析  

Rapid prenatal diagnosis of common chromosome aneuploidies by QFPCR:a retrospective analysis on 3 075 clinical samples

作　　者：卢建[1] 杜丽[1] 李海霞[1] 何天文[1] 兰菲菲[1] 郭莉[1] 傅文婷[1] 尹爱华[1] 

机构地区：[1]广东省妇幼保健院产前诊断与遗传病诊疗中心,广东广州510010

出　　处：《热带医学杂志》2012年第9期1083-1085,1099,共4页Journal of Tropical Medicine

基　　金：广东省科技计划项目(2009B030801255)

摘　　要：目的对3075例产前诊断标本进行常见染色体非整倍体快速产前诊断的结果进行回顾性分析,探讨分析荧光定量PCR(QF-PCR)在快速产前诊断常见染色体非整倍体中的临床应用价值。方法采用QF-PCR技术对样本进行21、18、13、X及Y染色体非整倍体诊断,并与核型分析结果进行比较。结果 QF-PCR均正确检出38例21、18、13、X及Y染色体非整倍体,无假阳性结果;同时亦正确检出1例18-三体嵌合样本,但是漏诊了3例涉及21和性染色体异常的嵌合体。对于体外培养失败的样本,可将QF-PCR作为培养失败的样本一个补充。结论 QF-PCR技术能够在48～72h内快速、准确地诊断21、18、13、X及Y染色体非整倍体,此技术在快速产前诊断常见非整倍体方面具有重要临床实用价值,可弥补核型分析带来的不足,可以最大程度地缓解孕妇及其家人的焦虑。Objective To evaluate the use of quantitative fluorescent polymerase chain reaction（QF-PCR） for rapid prenatal diagnosis of common chromosome aneuploidies.Methods 3 075 clinical samples were studied using QF-PCR.Samples were also tested by cytogenetic analysis and the results were compared.Results 38 cases of trisomy 21,18,13 as well as X and Y aneuploidies were correctly diagnosed.false-positive result was not observed.Chromosome mosaicism could also be suspected in one sample with 18 partial trisomy but three fetuses with 21,X and Y partial aneuploidies and mosaicism were uncorrectly diagnosed.In some cases of in vitro culture failures,QF-PCR was the only evidence of fetal 21,18,13,X and Y chromosome complement.Conclusion QF-PCR is proven to be efficient and reliable in detecting chromosome disorders within 48～72 h.

关 键 词：QF-PCR 产前诊断 非整倍体 

分 类 号：R714.53[医药卫生—妇产科学]